The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the ... See more...

Aliases for RHCE Gene

Aliases for RHCE Gene

  • Rh Blood Group CcEe Antigens 2 3 5
  • Blood Group Rh(CE) Polypeptide 3 4
  • Rhesus C/E Antigens 3 4
  • Rh Polypeptide 1 3 4
  • CD240CE 2 3
  • RHC 3 4
  • RHE 3 4
  • RHCE Blood Group Variant Crawford Antigen Rh43 3
  • (C)Ces Type 1 Rhesus Blood Group D Antigen 3
  • Rhesus Blood Group Antigen, RhC Antigen 3
  • Silenced Rh Blood Group CcEe Antigen 3
  • Rhesus Blood Group Little E Antigen 3
  • Rhesus System C And E Polypeptides 3
  • Rhesus Blood Group, CcEe Antigens 2
  • Rhesus Blood Group CcEe Antigen 3
  • Rhesus Blood Group Rhce Antigen 3
  • Rhesus Blood Group CE Protein 3
  • Rh Blood Group Antigen Evans 3
  • Rhesus Blood Group E Antigen 3
  • Blood Group RhCE Polypeptide 3
  • Rh Blood Group CcEe Antigen 3
  • Blood Group RhCcEe Antigen 3
  • Rh Blood Group CE Antigen 3
  • RhCE Blood Group Antigens 3
  • Rh Blood Group C Antigen 3
  • Rh Blood Group D Antigen 3
  • Blood Group Protein RHCE 3
  • Truncated RhCcEe Antigen 3
  • Rh Blood Group Protein 3
  • Truncated RhD Antigen 3
  • Rh Polypeptide I 3
  • CD240CE Antigen 4
  • Truncated RHCE 3
  • RHCe(152N) 3
  • RhIVb(J) 3
  • RhVIII 3
  • RH30A 3
  • RHIXB 3
  • Rh30A 4
  • RhIXB 4
  • RHNA 3
  • RHPI 3
  • RhVI 3
  • RHCE 5
  • RhPI 4
  • Rh4 3
  • RH 3

External Ids for RHCE Gene

Previous HGNC Symbols for RHCE Gene

  • RH

Previous GeneCards Identifiers for RHCE Gene

  • GC01M025155
  • GC01M024671
  • GC01M024597
  • GC01M024969
  • GC01M025434
  • GC01M025561
  • GC01M025688
  • GC01M023942

Summaries for RHCE Gene

Entrez Gene Summary for RHCE Gene

  • The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]

GeneCards Summary for RHCE Gene

RHCE (Rh Blood Group CcEe Antigens) is a Protein Coding gene. Diseases associated with RHCE include Rh-Null, Amorph Type and Retinohepatoendocrinologic Syndrome. Gene Ontology (GO) annotations related to this gene include ammonium transmembrane transporter activity. An important paralog of this gene is RHD.

UniProtKB/Swiss-Prot Summary for RHCE Gene

  • May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Gene Wiki entry for RHCE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHCE Gene

Genomics for RHCE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHCE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHCE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHCE

Top Transcription factor binding sites by QIAGEN in the RHCE gene promoter:
  • AREB6
  • C/EBPalpha
  • CBF(2)
  • CREB
  • NF-Y
  • Pax-4a

Genomic Locations for RHCE Gene

Genomic Locations for RHCE Gene
chr1:25,360,659-25,430,193
(GRCh38/hg38)
Size:
69,535 bases
Orientation:
Minus strand
chr1:25,688,740-25,756,683
(GRCh37/hg19)
Size:
67,944 bases
Orientation:
Minus strand

Genomic View for RHCE Gene

Genes around RHCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHCE Gene

Proteins for RHCE Gene

  • Protein details for RHCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18577-RHCE_HUMAN
    Recommended name:
    Blood group Rh(CE) polypeptide
    Protein Accession:
    P18577
    Secondary Accessions:
    • A7DW68
    • B7UDF3
    • B7UDF4
    • B7UDF5
    • B7UDF6
    • B7UDF7
    • B7UDF8
    • B7UDF9
    • B7UDG0
    • B7UDG1
    • B7UDG2
    • B7UDG3
    • Q02163
    • Q02164
    • Q02165
    • Q16160
    • Q2MJW0
    • Q2VC86
    • Q3LTM6
    • Q6AZX5
    • Q6J2U3
    • Q7RU06
    • Q8IZT2
    • Q8IZT3
    • Q8IZT4
    • Q8IZT5
    • Q9UD13
    • Q9UD14
    • Q9UD15
    • Q9UD16
    • Q9UD73
    • Q9UD74
    • Q9UEC2
    • Q9UEC3
    • Q9UPN0

    Protein attributes for RHCE Gene

    Size:
    417 amino acids
    Molecular mass:
    45560 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHCE Gene

neXtProt entry for RHCE Gene

Post-translational modifications for RHCE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHCE Gene

Domains & Families for RHCE Gene

Gene Families for RHCE Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for RHCE Gene

InterPro:
Blocks:
  • Rhesus blood group protein signature
  • Rh-like protein/ammonium transporter
ProtoNet:

Suggested Antigen Peptide Sequences for RHCE Gene

GenScript: Design optimal peptide antigens:
  • Rhesus blood group C antigen (A0PFK1_HUMAN)
  • Rhesus blood group e antigen (A0ZXY7_HUMAN)
  • Rhesus blood group little e antigen (A4VAS3_HUMAN)
  • Rhesus blood group weak little e antigen (A8YPG3_HUMAN)
  • Rh blood group, CcEe antigens (B3CL46_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18577

UniProtKB/Swiss-Prot:

RHCE_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHCE: view

Function for RHCE Gene

Molecular function for RHCE Gene

UniProtKB/Swiss-Prot Function:
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
GENATLAS Biochemistry:
Rhesus blood group,locus CE,RH30 glycoprotein

Phenotypes From GWAS Catalog for RHCE Gene

Gene Ontology (GO) - Molecular Function for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with RHCE: view
genes like me logo Genes that share phenotypes with RHCE: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHCE

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHCE Gene

Localization for RHCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHCE Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHCE gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHCE: view

Pathways & Interactions for RHCE Gene

PathCards logo

SuperPathways for RHCE Gene

No Data Available

Interacting Proteins for RHCE Gene

Gene Ontology (GO) - Biological Process for RHCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015696 ammonium transport IEA --
GO:0072488 ammonium transmembrane transport IEA,IBA 21873635
genes like me logo Genes that share ontologies with RHCE: view

No data available for Pathways by source and SIGNOR curated interactions for RHCE Gene

Drugs & Compounds for RHCE Gene

(1) Additional Compounds for RHCE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHCE: view

Transcripts for RHCE Gene

mRNA/cDNA for RHCE Gene

5 REFSEQ mRNAs :
67 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHCE

Alternative Splicing Database (ASD) splice patterns (SP) for RHCE Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - - - -

Relevant External Links for RHCE Gene

GeneLoc Exon Structure for
RHCE

Expression for RHCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHCE Gene

This gene is overexpressed in Whole Blood (x9.8).

Protein differential expression in normal tissues from HIPED for RHCE Gene

This gene is overexpressed in Blymphocyte (38.6), Neutrophil (17.5), and Urine (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHCE Gene



Protein tissue co-expression partners for RHCE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHCE

SOURCE GeneReport for Unigene cluster for RHCE Gene:

Hs.523054

mRNA Expression by UniProt/SwissProt for RHCE Gene:

P18577-RHCE_HUMAN
Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts.

Evidence on tissue expression from TISSUES for RHCE Gene

  • Blood(4.7)
  • Bone marrow(4.5)
  • Nervous system(4.5)
  • Heart(2.5)
  • Liver(2.4)
  • Skin(2.3)
  • Spleen(2.2)
  • Kidney(2.1)
  • Muscle(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHCE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RHCE: view

Primer Products

Orthologs for RHCE Gene

This gene was present in the common ancestor of animals.

Orthologs for RHCE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC456645 30
  • 96.24 (n)
-- 31
  • 93 (a)
ManyToMany
-- 31
  • 89 (a)
ManyToMany
-- 31
  • 87 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia RHCE 30
  • 77.06 (n)
RH30 31
  • 61 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC282685 30
  • 73.7 (n)
-- 31
  • 58 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rhd 30 31
  • 71.43 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rhd 30
  • 70.7 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RHD 30 31
  • 57 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhd 30
  • 51.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii rhd 31
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rh50 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rhr-2 31
  • 25 (a)
ManyToMany
rhr-1 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7075 31
  • 29 (a)
ManyToMany
CSA.7848 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
Species where no ortholog for RHCE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RHCE Gene

ENSEMBL:
Gene Tree for RHCE (if available)
TreeFam:
Gene Tree for RHCE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHCE: view image

Paralogs for RHCE Gene

Paralogs for RHCE Gene

(13) SIMAP similar genes for RHCE Gene using alignment to 79 proteins:

  • RHCE_HUMAN
  • A0PFK1_HUMAN
  • A0ZXY7_HUMAN
  • A4VAS3_HUMAN
  • A8YPG3_HUMAN
  • B3CL46_HUMAN
  • B3CL47_HUMAN
  • B3CL48_HUMAN
  • B6ZCF5_HUMAN
  • B6ZCF7_HUMAN
  • B6ZCF8_HUMAN
  • B6ZCG0_HUMAN
  • B6ZCG1_HUMAN
  • D0AB03_HUMAN
  • D0AB04_HUMAN
  • D4P3E5_HUMAN
  • D5L848_HUMAN
  • E1Y3Y3_HUMAN
  • E1Y3Y4_HUMAN
  • E1Y3Y5_HUMAN
  • E7EMF2_HUMAN
  • E7EN29_HUMAN
  • E7EQ47_HUMAN
  • E7EU00_HUMAN
  • E7EWZ5_HUMAN
  • E9PKB3_HUMAN
  • G0TQY4_HUMAN
  • G0TQY5_HUMAN
  • G1AUC3_HUMAN
  • H0YCJ8_HUMAN
  • I7ITT0_HUMAN
  • I7L128_HUMAN
  • J9ZZ22_HUMAN
  • J9ZZ26_HUMAN
  • J9ZZ28_HUMAN
  • J9ZZ64_HUMAN
  • J9ZZ69_HUMAN
  • J9ZZE7_HUMAN
  • J9ZZF1_HUMAN
  • K0A0Q6_HUMAN
  • K0A0R1_HUMAN
  • K0A0R6_HUMAN
  • K0A0T3_HUMAN
  • K0A0T9_HUMAN
  • O43811_HUMAN
  • P78522_HUMAN
  • Q0E5G3_HUMAN
  • Q0E5G4_HUMAN
  • Q0E5G5_HUMAN
  • Q0E5G6_HUMAN
  • Q0E5G7_HUMAN
  • Q0E5G8_HUMAN
  • Q0E5G9_HUMAN
  • Q0E5H0_HUMAN
  • Q0E5H1_HUMAN
  • Q0KHB9_HUMAN
  • Q1EL80_HUMAN
  • Q2A683_HUMAN
  • Q2A684_HUMAN
  • Q2A685_HUMAN
  • Q2MCP1_HUMAN
  • Q2MCP2_HUMAN
  • Q3ZV40_HUMAN
  • Q5DVP9_HUMAN
  • Q5DVQ0_HUMAN
  • Q5NDM3_HUMAN
  • Q5NDM4_HUMAN
  • Q5NDM5_HUMAN
  • Q5NDM6_HUMAN
  • Q5VSJ7_HUMAN
  • Q5VSJ8_HUMAN
  • Q5VSJ9_HUMAN
  • Q9UMH9_HUMAN
  • Q9UP89_HUMAN
  • Q9UP90_HUMAN
  • Q9UP91_HUMAN
  • S6FLM9_HUMAN
  • T2LL58_HUMAN
  • V6EVT1_HUMAN

Pseudogenes.org Pseudogenes for RHCE Gene

genes like me logo Genes that share paralogs with RHCE: view

Variants for RHCE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RHCE Gene

RHCE_HUMAN-P18577
RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103 corresponds to Rh2 and Pro-103 to Rh4.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHCE Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
775525 Benign: not provided 25,408,764(-) G/C MISSENSE_VARIANT
789916 Likely Benign: not provided 25,388,999(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
789917 Benign: not provided 25,390,838(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
791109 Benign: not provided 25,385,759(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs1553156106 Pathogenic: RH-NULL, AMORPH TYPE 25,385,733(-) T/TATGAAGC FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RHCE Gene

Structural Variations from Database of Genomic Variants (DGV) for RHCE Gene

Variant ID Type Subtype PubMed ID
dgv132n100 CNV gain 25217958
dgv211n54 CNV loss 21841781
dgv212n54 CNV loss 21841781
dgv213n54 CNV loss 21841781
esv2762137 CNV gain 21179565
esv2762632 CNV gain+loss 21179565
esv28510 CNV gain+loss 19812545
esv3585525 CNV gain 21293372
esv3585526 CNV loss 21293372
esv3585527 CNV gain 21293372
esv3585528 CNV loss 21293372
esv3585529 CNV gain 21293372
esv996331 CNV gain 20482838
nsv1009831 CNV gain 25217958
nsv1077270 CNV deletion 25765185
nsv1143443 CNV deletion 24896259
nsv479344 CNV novel sequence insertion 20440878
nsv480324 CNV novel sequence insertion 20440878
nsv481117 CNV novel sequence insertion 20440878
nsv482037 CNV gain 20164927
nsv499798 OTHER inversion 21111241
nsv545843 CNV loss 21841781
nsv545881 CNV loss 21841781
nsv7174 OTHER inversion 18451855
nsv7479 CNV insertion 18451855
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv945834 CNV duplication 23825009
nsv945835 CNV duplication 23825009
nsv945837 CNV duplication 23825009
nsv9768 CNV gain+loss 18304495

Variation tolerance for RHCE Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.64; 86.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHCE Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
RHCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHCE

SNP Genotyping and Copy Number Assay Products

Disorders for RHCE Gene

MalaCards: The human disease database

(22) MalaCards diseases for RHCE Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rh-null, amorph type
  • rhna
retinohepatoendocrinologic syndrome
  • rhe syndrome
fetal erythroblastosis
  • ef - erythroblastosis foetalis
rh isoimmunization
  • rh incompatibility affecting management of mother
blood group incompatibility
- elite association - COSMIC cancer census association via MalaCards
Search RHCE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RHCE_HUMAN
  • Rh-null, amorph type (RHNA) [MIM:617970]: An autosomal recessive condition characterized by red blood cells that lack all Rh antigens, have increased osmotic fragility, diminished lifespan, and show changes in morphology resulting in stomatocytosis. Rh-null individuals have mild to moderate hemolytic anemia. They are at risk of having adverse reactions in response to transfusion or pregnancy, because they may produce antibodies against several of the Rh antigens. {ECO:0000269 PubMed:25413218, ECO:0000269 PubMed:9657769}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RHCE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RHCE: view

No data available for Genatlas for RHCE Gene

Publications for RHCE Gene

  1. E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop. (PMID: 11724987) Kashiwase K … Juji T (Transfusion 2001) 3 4 23
  2. Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. (PMID: 8188244) Chérif-Zahar B … Colin Y (Genomics 1994) 3 4 23
  3. Molecular genetic basis of the human Rhesus blood group system. (PMID: 8220426) Mouro I … Le Van Kim C (Nature genetics 1993) 2 3 4
  4. cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. (PMID: 2123099) Avent ND … Anstee DJ (The Biochemical journal 1990) 3 4 23
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for RHCE Gene

Sources for RHCE Gene